|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Seventy-one (71) children and adolescents, with a mean age of 11.3 ± 0.3 years (range 4.5-17.8), diagnosed with AT (antibodies against thyroid peroxidase [anti-TPO] and/or thyroglobulin [anti-Tg] ≥60 IU/mL, euthyroidism or treated hypothyroidism and goitre in thyroid gland ultrasonography) were randomized to receive 200 μg l-selenomethionine or placebo daily for 6 months.
|
30306604 |
2019 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
In family 1, the proposita with CH and goiter was heterozygous for three TPO, one TG, and one DUOX2 mutations, including three novel variants inherited from both parents.
|
30375286 |
2019 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Nivolumab-induced immune thrombocytopenia and hypothyroidism were suspected based on the presence of platelet-associated IgG, an increased level of autoantibodies to thyroglobulin and thyroid peroxidase and an enlarged thyroid gland.
|
29260625 |
2018 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, we report that TPO mutations with residual activity are associated with mild TPO deficiency, which is clinically characterized by marked goiter, mild TSH elevation, high serum T<sub>3</sub> to T<sub>4</sub> molar ratio, and high serum thyroglobulin levels.
|
28867693 |
2017 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
|
27166716 |
2016 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
The main outcomes were TPOAb concentrations and positivity, thyroid hormone concentrations (TSH, free T4), and clinical thyroid diseases (subclinical and overt hypothyroidism and goiter).
|
25719932 |
2015 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The compound heterozygotic mutations of the TPO gene (c.2268-2269 insT and c.2090 G>A) in two patients with congenital goiters hypothyroidism were demonstrated.
|
26406404 |
2015 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Clinical manifestations of TPO defects are typically permanent CH and with or without goiter.
|
24158420 |
2014 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The aim of this study was to screen for DUOX2, TPO and TG mutations in Chinese patients with congenital hypothyroidism (CH) and goitre and to define the relationships between DUOX2 genotypes and clinical phenotypes.
|
24735383 |
2014 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
|
20153806 |
2010 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
|
17547680 |
2007 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
|
14751036 |
2003 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Congenital hypothyroidism with goiter in toy fox terriers.
|
12564727 |
2003 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine.
|
12938097 |
2003 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Three siblings with goitre and latent to mild hypothyroidism were suspected of having thyroid peroxidase (TPO) abnormality.
|
12864797 |
2003 |
|
Goiter
|
0.700 |
GeneticVariation
|
phenotype |
LHGDN |
Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine.
|
12938097 |
2003 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
Mutations were searched in some of the most likely candidate genes: thyroperoxidase (TPO) in patients with CH goiter, Pax8 and thyrotropin receptor (TSHR) in the other group.
|
12490071 |
2002 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
TPO transcripts were detected in 7/10 (70%) patients with known metastases of thyroid cancer and in 39 of 110 (36%) patients without metastases (P<0.05), in 15/44 (34%) patients with goitre, in 17/41 (41%) cases with GD and in 4/54 (7.4%) subjects in the control group (P<0.05, controls vs all patients with thyroid disease).
|
12459031 |
2002 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
15.5% (11/71) were hypothyroid, 17 (23.9%) were positive for thyroid peroxidase (TPO) and/or thyroglobulin (Tg) antibodies, and 24 (33.8%) had thyromegaly.
|
10776989 |
2000 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
In conclusion, the identification of different molecular defects provided evidence that hereditary goiter associated with abnormal Tg or TPO synthesis is caused by heterogeneous genetic alterations.
|
7549998 |
1994 |
|
Goiter
|
0.700 |
Biomarker
|
phenotype |
HPO |
|
|
|